GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Monogenic disorders list    

List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.

View information by Inheritance Mode


S.No.  Genetic Disorders (Gentigs update)
Modes of inheritance
Category Gene symbol  Links Indian
context
311 Sotos syndrome  (Mar 09, 2023)
Autosomal dominant
Neurodevelopmental disorders NSD1 nuclear receptor binding SET domain protein 1
PubMed Reports
312 Spinocerebellar ataxia 12  (Nov 02, 2023)
Autosomal dominant
Neurodegenerative disorders PPP2R2B protein phosphatase 2 regulatory subunit Bbeta
PubMed Reports
313 Spinocerebellar ataxia 46  (Apr 17, 2024)
Autosomal dominant
Neurodegenerative disorders PLD3 phospholipase D family member 3
PubMed Reports
314 Spinocerebellar ataxia type 1  (Apr 17, 2024)
Autosomal dominant
Neurodegenerative disorders ATXN1 ataxin 1
PubMed Reports
315 Spinocerebellar ataxia type 10  (Apr 17, 2024)
Autosomal dominant
Neurodegenerative disorders ATXN10 ataxin 10
PubMed Reports
316 Spinocerebellar ataxia type 14  (Apr 17, 2024)
Autosomal dominant
Neurodegenerative disorders PRKCG protein kinase C gamma
PubMed Reports
317 Spinocerebellar ataxia type 16  (Apr 17, 2024)
Autosomal recessive
Neurodegenerative disorders ITPR1 inositol 1,4,5-trisphosphate receptor type 1
PubMed Reports
318 Spinocerebellar ataxia type 17  (Apr 17, 2024)
Autosomal dominant
Neurodegenerative disorders TBP TATA-box binding protein
PubMed Reports
319 Spinocerebellar ataxia type 18  (Apr 17, 2024)
Autosomal dominant
Neurodegenerative disorders IFRD1 interferon related developmental regulator 1
PubMed Reports
320 Spinocerebellar ataxia type 2  (Apr 17, 2024)
Autosomal dominant
Neurodegenerative disorders ATXN2 ataxin 2
PubMed Reports